Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in as many as 21 distinct genes. EB is primarily a disorder affecting the epithelial layers of skin and mucous membranes, without extracutaneous manifestations, and thus being non-syndromic. However, recent demonstrations of skin blistering in the spectrum of EB in multisystem disorders with single gene defects highlight the concept of syndromic EB.